UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
2-241751164-CAGCTGTTCTGCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751168_241751181del , CM000664.2:g.241751168_241751181del | GRCh38 |
| NC_000002.11:g.242690583_242690596del , CM000664.1:g.242690583_242690596del | GRCh37 |
| NC_000002.10:g.242339256_242339269del | NCBI36 |
| NG_012012.1:g.21554_21567del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.998-78_998-65del MANE Select | ENSP00000315351.4:n.998-78_998-65del | |
| ENST00000321264.8:c.998-78_998-65del | ENSP00000315351.4:n.998-78_998-65del | |
| ENST00000400769.6:c.854-4681_854-4668del | ENSP00000383580.2:n.854-4681_854-4668del | |
| ENST00000403782.5:c.596-78_596-65del | ENSP00000384723.1:n.596-78_596-65del | |
| ENST00000432449.1:c.258-78_258-65del | ||
| ENST00000436747.5:c.*1314-78_*1314-65del | ENSP00000400212.1:n.*1314-78_*1314-65del | |
| ENST00000454048.1:c.101-78_101-65del | ENSP00000404596.1:n.101-78_101-65del | |
| ENST00000467427.5:n.389+874_389+887del | ||
| ENST00000470343.5:n.479-78_479-65del | ||
| ENST00000473126.1:n.197-78_197-65del | ||
| ENST00000486953.5:n.163+874_163+887del | ||
| ENST00000496252.5:n.353-78_353-65del | ||
| NM_001287249.1:c.596-78_596-65del | NP_001274178.1:n.596-78_596-65del | |
| NM_152783.4:c.998-78_998-65del | NP_689996.4:n.998-78_998-65del | |
| NR_109778.1:n.1063-4681_1063-4668del | ||
| XM_011511734.1:c.1076-78_1076-65del | XP_011510036.1:n.1076-78_1076-65del | |
| XM_011511735.1:c.1076-78_1076-65del | XP_011510037.1:n.1076-78_1076-65del | |
| XM_011511736.1:c.998-78_998-65del | XP_011510038.1:n.998-78_998-65del | |
| XM_011511737.1:c.1076-78_1076-65del | XP_011510039.1:n.1076-78_1076-65del | |
| XM_011511742.1:c.1213-78_1213-65del | XP_011510044.1:n.1213-78_1213-65del | |
| XM_011511743.1:c.1213-78_1213-65del | XP_011510045.1:n.1213-78_1213-65del | |
| XM_011511744.1:c.1213-78_1213-65del | XP_011510046.1:n.1213-78_1213-65del | |
| XM_011511745.1:c.1076-78_1076-65del | XP_011510047.1:n.1076-78_1076-65del | |
| XM_011511748.1:c.1147-78_1147-65del | XP_011510050.1:n.1147-78_1147-65del | |
| XM_011511749.1:c.1179+874_1179+887del | XP_011510051.1:n.1179+874_1179+887del | |
| XM_011511750.1:c.1076-78_1076-65del | XP_011510052.1:n.1076-78_1076-65del | |
| XM_011511751.1:c.1212+589_1212+602del | XP_011510053.1:n.1212+589_1212+602del | |
| XM_011511753.1:c.1075+874_1075+887del | XP_011510055.1:n.1075+874_1075+887del | |
| XM_011511754.1:c.515-78_515-65del | XP_011510056.1:n.515-78_515-65del | |
| XM_011511755.1:c.506-78_506-65del | XP_011510057.1:n.506-78_506-65del | |
| XM_011511756.1:c.853+6291_853+6304del | XP_011510058.1:n.853+6291_853+6304del | |
| XM_011511757.1:c.*14-78_*14-65del | XP_011510059.1:n.*14-78_*14-65del | |
| XR_241434.3:n.1337-78_1337-65del | ||
| XR_923003.1:n.1859-78_1859-65del | ||
| XR_923004.1:n.1630-78_1630-65del | ||
| XR_923005.1:n.1373-78_1373-65del | ||
| XR_923006.1:n.1373-78_1373-65del | ||
| XR_923007.1:n.1340-78_1340-65del | ||
| XR_923008.1:n.1236-78_1236-65del | ||
| XR_923009.1:n.1236-78_1236-65del | ||
| XR_923010.1:n.1670-78_1670-65del | ||
| XR_923011.1:n.1441-78_1441-65del | ||
| XR_923012.1:n.1375-78_1375-65del | ||
| XR_923014.1:n.1014-4681_1014-4668del | ||
| NM_001352824.1:c.437-78_437-65del | NP_001339753.1:n.437-78_437-65del | |
| XM_011511734.2:c.1076-78_1076-65del | XP_011510036.1:n.1076-78_1076-65del | |
| XM_011511735.2:c.1076-78_1076-65del | XP_011510037.1:n.1076-78_1076-65del | |
| XM_011511736.2:c.998-78_998-65del | XP_011510038.1:n.998-78_998-65del | |
| XM_011511737.3:c.1076-78_1076-65del | XP_011510039.1:n.1076-78_1076-65del | |
| XM_011511743.2:c.1213-78_1213-65del | XP_011510045.1:n.1213-78_1213-65del | |
| XM_011511744.2:c.1213-78_1213-65del | XP_011510046.1:n.1213-78_1213-65del | |
| XM_011511745.3:c.1076-78_1076-65del | XP_011510047.1:n.1076-78_1076-65del | |
| XM_011511749.3:c.1179+874_1179+887del | XP_011510051.1:n.1179+874_1179+887del | |
| XM_011511750.3:c.1076-78_1076-65del | XP_011510052.1:n.1076-78_1076-65del | |
| XM_011511751.2:c.1212+589_1212+602del | XP_011510053.1:n.1212+589_1212+602del | |
| XM_011511753.3:c.1075+874_1075+887del | XP_011510055.1:n.1075+874_1075+887del | |
| XM_011511756.2:c.853+6291_853+6304del | XP_011510058.1:n.853+6291_853+6304del | |
| XM_011511757.3:c.*14-78_*14-65del | XP_011510059.1:n.*14-78_*14-65del | |
| XM_017004828.2:c.998-78_998-65del | XP_016860317.1:n.998-78_998-65del | |
| XM_017004829.2:c.1213-78_1213-65del | XP_016860318.1:n.1213-78_1213-65del | |
| XM_017004830.2:c.1076-78_1076-65del | XP_016860319.1:n.1076-78_1076-65del | |
| XM_024453102.1:c.848-78_848-65del | XP_024308870.1:n.848-78_848-65del | |
| XR_001738918.2:n.1372-78_1372-65del | ||
| XR_001738919.2:n.1306-78_1306-65del | ||
| XR_002959334.1:n.1858-78_1858-65del | ||
| XR_002959335.1:n.1502-78_1502-65del | ||
| XR_241434.4:n.1336-78_1336-65del | ||
| XR_923004.3:n.1629-78_1629-65del | ||
| XR_923005.2:n.1372-78_1372-65del | ||
| XR_923007.3:n.1339-78_1339-65del | ||
| XR_923009.2:n.1235-78_1235-65del | ||
| XR_923010.2:n.1669-78_1669-65del | ||
| XR_923011.3:n.1440-78_1440-65del | ||
| XR_923012.2:n.1374-78_1374-65del | ||
| XR_923014.3:n.1013-4681_1013-4668del | ||
| NM_152783.5:c.998-78_998-65del MANE Select | NP_689996.4:n.998-78_998-65del | |
| NM_001287249.2:c.596-78_596-65del | NP_001274178.1:n.596-78_596-65del | |
| NM_001352824.2:c.437-78_437-65del | NP_001339753.1:n.437-78_437-65del | |
| NR_109778.2:n.1012-4681_1012-4668del |